Proband information


Proband id 2195
Systematic Name
(NM_004992.3:)		 c.316C>G
Protein name
(NP_004983)		 p.Arg106Gly
Alternate systematic Name
(NM_001110792.1:)		 c.352C>G
Alternate Protein name
(NP_001104262)		 p.(Arg118Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297719G>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood or skin
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.316C>G p.Arg106Gly Female Unaffected mother is mosaic for the variation Rett syndrome-Classical 2194 :Cardiff, UK::
2 c.316C>G p.Arg106Gly Female Relative of proband Not Rett synd. 2195 :Cardiff, UK::
3 c.316C>G p.Arg106Gly Female Rett syndrome-Atypical 2196 :Cardiff, UK::
4 c.316C>G p.Arg106Gly Female Rett syndrome-not certain 3095 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
5 c.316C>G p.Arg106Gly Female Rett syndrome-not certain 3425 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070